Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Autor: Romina Petersen, John J. Lambourne, Biola M. Javierre, Luigi Grassi, Roman Kreuzhuber, Dace Ruklisa, Isabel M. Rosa, Ana R. Tomé, Heather Elding, Johanna P. van Geffen, Tao Jiang, Samantha Farrow, Jonathan Cairns, Abeer M. Al-Subaie, Sofie Ashford, Antony Attwood, Joana Batista, Heleen Bouman, Frances Burden, Fizzah A. Choudry, Laura Clarke, Paul Flicek, Stephen F. Garner, Matthias Haimel, Carly Kempster, Vasileios Ladopoulos, An-Sofie Lenaerts, Paulina M. Materek, Harriet McKinney, Stuart Meacham, Daniel Mead, Magdolna Nagy, Christopher J. Penkett, Augusto Rendon, Denis Seyres, Benjamin Sun, Salih Tuna, Marie-Elise van der Weide, Steven W. Wingett, Joost H. Martens, Oliver Stegle, Sylvia Richardson, Ludovic Vallier, David J. Roberts, Kathleen Freson, Lorenz Wernisch, Hendrik G. Stunnenberg, John Danesh, Peter Fraser, Nicole Soranzo, Adam S. Butterworth, Johan W. Heemskerk, Ernest Turro, Mikhail Spivakov, Willem H. Ouwehand, William J. Astle, Kate Downes, Myrto Kostadima, Mattia Frontini

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-12 (2017)

Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and p

Externí odkaz: https://doaj.org/article/2c4a1a97d70840748bc7d87203e84d18

The Kipoi repository accelerates community exchange and reuse of predictive models for genomics

Autor: Roman Kreuzhuber, Nancy Xu, Thorsten Beier, Žiga Avsec, Daniel S Kim, Jun Cheng, Johnny Israeli, Lara Urban, Avanti Shrikumar, Anshul Kundaje, Abhimanyu Banerjee, Oliver Stegle, Julien Gagneur

Publikováno v: Nature biotechnology

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2045b4de801200c5045ac1f8a0b6ce44
http://europepmc.org/articles/PMC6777348

Transcriptional, epigenetic and metabolic signatures in cardiometabolic syndrome defined by extreme phenotypes

Autor: Harriet McKinney, Leong L. Ng, Maik Pietzner, Simona D'Amore, Julian L. Griffin, Bekir Erguener, Michael Allison, John J Lambourne, Mattia Frontini, Matthew C Sims, Paul D. W. Kirk, Adrian Park, Denis Seyres, Kate Downes, Carly Kempster, Claudia Langenberg, Luigi Grassi, Luca Stefanucci, Frances Burden, Paulenne Quinn, Claire Adams, Albert Koulman, Karola Rehnström, Gabriele Mocciaro, Christoph Bock, Thong Huy Cao, Amy Frary, Samantha Farrow, Roman Kreuzhuber, Michele Vacca, David B. Savage, Oliver Slingsby, Alessandra Cabassi, Joana Batista

Improving the understanding of cardiometabolic syndrome pathophysiology and its relationship with thrombosis are ongoing healthcare challenges. Using plasma biomarkers analysis coupled with the transcriptional and epigenetic characterisation of cell

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3a24582b2e3ff33ceee29b75708073a
https://doi.org/10.1101/2020.03.06.961805

Characterization of the Clinical and Immunologic Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

Autor: Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W.M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A. Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R.J. Seppänen, Siobhan O. Burns, Paul Tuijnenburg, Taco W. Kuijpers, Klaus Warnatz, Bodo Grimbacher, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Sofie Ashford, William J. Astle, Anthony Attwood, Chiara Bacchelli, Joana Batista, Helen E. Baxendale, Claire Bethune, Shahnaz Bibi, Marta Bleda, Barbara Boardman, Claire Booth, John R. Bradley, Gerome Breen, Matthew Brown, Michael J. Browning, Mary Brownlie, Matthew S. Buckland, Oliver S. Burren, Keren Carss, John Chambers, Anita Chandra, Naomi Clements Brod, Hayley Clifford, Nichola Cooper, Louise C. Daugherty, E.G. Davies, Sophie Davies, John Davis, Sarah Deacock, Sri V.V. Deevi, John Dempster, Lisa A. Devlin, Eleanor F. Dewhurst, Kate Downes, Elizabeth Drewe, Daniel Duarte, J. David M. Edgar, Karen Edwards, William Egner, Tariq El-Shanawany, Marie Erwood, Debra Fletcher, James Fox, Amy J. Frary, Mattia Frontini, Abigail Furnell, H. Bobby Gaspar, Rohit Ghurye, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Pavels Gordins, Stefan Gräf, Luigi Grassi, Daniel Greene, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Matthias Haimel, Lorraine Harper, Grant Hayman, Archana Herwadkar, Fengyuan Hu, Stephen Hughes, Aarnoud P. Huissoon, Roger James, Stephen Jolles, Jennifer Jolley, Julie Jones, Yousuf Karim, Mary A. Kasanicki, Peter Kelleher, Carly Kempster, Sorena Kiani, Nathalie Kingston, Nigel Klein, Myrto Kostadima, Roman Kreuzhuber, Dinakantha Kumararatne, James Laffan, Sara E. Lear, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Paul A. Lyons, Jesmeen Maimaris, Ania Manson, Rutendo Mapeta, Jennifer Martin, Mark I. McCarthy, Elizabeth M. McDermott, Harriet McKinney, Stuart Meacham, Karyn Megy, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H.K. Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Christopher J. Penkett, Romina Petersen, Mark J. Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, F. Lucy Raymond, Paula J. Rayner-Matthews, Alex Richter, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Sinisa Savic, Suranjith L. Seneviratne, W.A. Carrock Sewell, Denis Seyres, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Michael A. Simpson, Kenneth G.C. Smith, Simon Staines, Emily Staples, Hannah Stark, Hans Stauss, Cathal L. Steele, Jonathan Stephens, Kathleen E. Stirrups, David Thomas, Moira J. Thomas, Patrick Thomas, Adrian J. Thrasher, Tobias Tilly, Catherine Titterton, Paul Treadaway, Salih Tuna, Ernest Turro, Rafal Urniaz, Julie von Ziegenweidt, Neil Walker, Christopher Watt, Steven B. Welch, Deborah Whitehorn, Lisa Willcocks, Nicholas Wood, Yvette Wood, Sarita Workman, Austen Worth, Katherine Yates, Nigel Yeatman, Patrick F.K. Yong, Timothy Young, Ping Yu, Eliska Zlamalova

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
J Allergy Clin Immunol
Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
Journal of Allergy and Clinical Immunology, 146, 901-911
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911

Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24edd7c93abde79c231a292f1382db64

Kipoi: accelerating the community exchange and reuse of predictive models for genomics

Autor: Žiga Avsec, Roman Kreuzhuber, Johnny Israeli, Nancy Xu, Jun Cheng, Avanti Shrikumar, Abhimanyu Banerjee, Daniel S. Kim, Lara Urban, Anshul Kundaje, Oliver Stegle, Julien Gagneur

Advanced machine learning models applied to large-scale genomics datasets hold the promise to be major drivers for genome science. Once trained, such models can serve as a tool to probe the relationships between data modalities, including the effect

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221fa9cccc617f3fefdeb85db018a16f
https://doi.org/10.1101/375345